Bone problems are highly common among people with Gaucher disease, with symptoms including chronic bone pain, death of bone tissue due to insufficient blood supply to bones, and fractures, a long-term study shows. The research, “Bone Manifestations in Gaucher Disease: A Monocentric Study of 128 Patients,” will be…
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis and management — has identified several clinical signs and factors indicative of early type 1 and type 3 Gaucher disease. The researchers aim to use the findings as a…
Enzyme replacement therapy (ERT) has limited effectiveness in addressing bone-related symptoms in Gaucher disease, namely the death of bone tissue due to loss of blood supply, a case study shows. The findings suggest that bone health should be closely monitored in these patients. The study, “Bone manifestations in neuronopathic Gaucher…
Gaucher disease patients — especially those receiving enzyme replacement therapy — have a higher incidence of complications and other diseases than the general population, and so they should be carefully monitored by their physicians, regardless of their treatment status, an Israeli study shows. The study, “Population-based cohort of 500…
The Icahn School of Medicine at Mount Sinai is repurposing pentosan polysulfate sodium — an anti-inflammatory medicine approved as Elmiron for bladder pain — for the treatment of lysosomal storage disorders, possibly to include Gaucher disease. The medical school in New York has signed two licensing agreements with Australia-based Paradigm…
Gaucher disease patients harboring a D409H mutation in the GBA gene show calcification — deposits of calcium salts — in the heart vessels, increasing their risk of cardiac problems, according to a case report. These patients should undergo an annual heart examination to detect potential problems sooner. The study, “Aortic…
Brain inflammation in Gaucher disease and two other lysosomal disorders is not caused by infiltrating macrophages to the central nervous system, but instead is likely caused by resident immune cells of the brain, a mouse study suggests. The study, “Absence of infiltrating peripheral myeloid cells in…
Laparoscopy, a minimally invasive surgery also known as keyhole surgery, was successful at resecting a large painful cyst from the spleen of a type 1 Gaucher disease patient. This case study supports laparoscopy as a potential alternative to more invasive approaches, namely splenectomy — the surgical removal of the…
Liver transient elastography, a noninvasive technique that measures liver stiffness, can be used to evaluate whether enzyme replacement therapy is improving liver symptoms in children with Gaucher disease, a new case report suggests. The study, “Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease,” was published in…
In rare cases where Parkinson’s disease occurs in Gaucher disease patients, mutations in the GBA gene — which cause Gaucher and are a risk factor for Parkinson’s — do not seem to accelerate the cognitive decline linked to the neurodegenerative disease, a small case study reports. The study, “The…